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Polygenic Risk Scores in Coronary Artery Disease and Atrial Fibrillation

Patrick A Gladding1, Malcolm Legget2, Diane Fatkin3

  • 1North Shore Hospital, Waitemata District Health Board, Auckland, New Zealand; Auckland Bioengineering Institute, University of Auckland, Auckland, New Zealand; Theranostics Laboratory, North Shore Hospital, Waitemata District Health Board, Auckland, New Zealand.

Heart, Lung & Circulation
|January 25, 2020
PubMed

Insights

Polygenic risk scores (PRS) improve risk prediction for coronary artery disease (CAD) and atrial fibrillation (AF) beyond traditional factors. Further research is needed to confirm the long-term benefits of PRS-guided management.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Epidemiology

Background:

  • Coronary artery disease (CAD) and atrial fibrillation (AF) are leading causes of morbidity and mortality.
  • Current risk factors are often identified late, after disease processes have begun.
  • Understanding genetic contributions is crucial for early detection and prevention.

Purpose of the Study:

  • To explore the role of genetic factors in the development of CAD and AF.
  • To evaluate the utility of polygenic risk scores (PRS) in improving risk stratification for these complex cardiovascular diseases.

Main Methods:

  • Review of genetic studies, including genome-wide association studies (GWAS), for CAD and AF.
  • Discussion of the development and application of polygenic risk scores (PRS).
  • Analysis of the incremental prognostic value of PRS in risk stratification algorithms.

Main Results:

  • While rare variants can cause familial forms of CAD and AF, most cases are complex traits influenced by common variants.
  • Genome-wide association studies have identified common variants associated with disease susceptibility, but individual variants have limited predictive power.
  • Polygenic risk scores (PRS), aggregating effects of multiple common variants, have shown incremental prognostic information when added to clinical risk factors for CAD and AF.

Conclusions:

  • Polygenic risk scores (PRS) offer a promising approach to enhance risk stratification for coronary artery disease (CAD) and atrial fibrillation (AF).
  • Further evidence-based data are required to determine the long-term health and economic benefits of PRS-guided clinical management.

Keywords:
Atrial fibrillationCoronary artery diseaseGeneticsGenome-wide association studies (GWAS)Polygenic risk scoreWhole Genome Sequencing (WGS)meta-genomic risk score (metaGRS)

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